UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
41320
dbSNP Id:
rs312262763
gnomAD v3:
15-44584424-GA-G
gnomAD v4:
15-44584424-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584429del , CM000677.2:g.44584429del | GRCh38 |
| NC_000015.9:g.44876627del , CM000677.1:g.44876627del | GRCh37 |
| NC_000015.8:g.42663919del | NCBI36 |
| NG_008885.1:g.84254del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559511.6:c.5255del | ENSP00000453246.2:p.Phe1752SerfsTer? | |
| ENST00000561391.2:n.1483del | ||
| ENST00000682065.1:c.5122-11del | ENSP00000507025.1:n.5122-11del | |
| ENST00000682460.1:c.*1512del | ENSP00000508334.1:n.*1512del | |
| ENST00000682495.1:c.*1747del | ENSP00000507166.1:n.*1747del | |
| ENST00000682669.1:c.5054del | ENSP00000507782.1:p.Phe1685SerfsTer? | |
| ENST00000683186.1:c.*2018del | ENSP00000507268.1:n.*2018del | |
| ENST00000683496.1:c.5255del | ENSP00000506968.1:p.Phe1752SerfsTer? | |
| ENST00000683734.1:c.5255del | ENSP00000508319.1:p.Phe1752SerfsTer? | |
| ENST00000683753.1:n.4301del | ||
| ENST00000684038.1:c.*1675del | ENSP00000507141.1:n.*1675del | |
| ENST00000684235.1:c.5255del | ENSP00000508295.1:p.Phe1752SerfsTer? | |
| ENST00000684676.1:c.5255del | ENSP00000506948.1:p.Phe1752SerfsTer? | |
| ENST00000261866.12:c.5255del MANE Select | ENSP00000261866.7:p.Phe1752SerfsTer? | |
| ENST00000261866.11:c.5255del | ENSP00000261866.7:p.Phe1752SerfsTer? | |
| ENST00000427534.6:c.5255del | ENSP00000396110.2:p.Phe1752SerfsTer? | |
| ENST00000535302.6:c.5255del | ENSP00000445278.2:p.Phe1752SerfsTer? | |
| ENST00000558319.5:c.5255del | ENSP00000453599.1:p.Phe1752SerfsTer? | |
| ENST00000558790.5:n.692del | ||
| ENST00000559511.5:c.103del | ||
| ENST00000559822.1:c.27del | ||
| NM_001160227.1:c.5255del | NP_001153699.1:p.Phe1752SerfsTer? | |
| NM_025137.3:c.5255del | NP_079413.3:p.Phe1752SerfsTer? | |
| XM_005254695.3:c.4997del | XP_005254752.1:p.Phe1666SerfsTer? | |
| XM_006720700.1:c.5122-11del | XP_006720763.1:n.5122-11del | |
| XM_017022634.1:c.5255del | XP_016878123.1:p.Phe1752SerfsTer? | |
| XM_017022636.1:c.2132del | XP_016878125.1:p.Phe711SerfsTer? | |
| XR_931917.2:n.5309del | ||
| NM_025137.4:c.5255del MANE Select | NP_079413.3:p.Phe1752SerfsTer? | |
| NM_001160227.2:c.5255del | NP_001153699.1:p.Phe1752SerfsTer? |